Rafael Artuch

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

This study uses iPSC-derived dopaminergic neurons to model THD, showing disease-specific phenotypes and treatment responses.

Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology.

This study examines kynurenine pathway (KP) alterations in post-mortem prefrontal cortex and cerebellum of schizophrenia patients, linking KP changes to monoamine metabolism and symptomatology.

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis and iron homeostasis

This study shows that Slc7a7 deficiency in mice causes erythropoiesis failure and iron overload, with erythropoietin supplementation as a potential therapy for LPI.